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PubMed 16419642 A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes. A gain-of-function mutation resulting in the S810L amino a 1.78 KB 2015-11-20 28 30
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PubMed 16277682 Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family. Mutations of the p62/Sequestosome 1 gene (p62/SQSTM1) account 1.92 KB 2015-08-06 44 3
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PubMed 16152606 Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. Nijmegen breakage syndrome (NBS) is a human autosomal recessive 1.76 KB 2015-11-19 45 14
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PubMed 16046395 Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a primary target for opioid drugs and peptides, the mu opioid receptor (OPRM1) plays a key role in pain per 1.52 KB 2015-11-19 50 3
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PubMed 15609295 Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. Bernard-Soulier syndrome (BSS) i 1.39 KB 2015-11-18 34 3
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PubMed 15198485 Evaluation of the Lys198Asn and -134delA genetic polymorphisms of the endothelin-1 gene. Endothelin-1 (ET-1) is a potent vasoconstrictor and shows various pharmacological responses. Two single nucleot 1.68 KB 2015-11-19 28 8
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PubMed 15041272 A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were st 1.53 KB 2015-11-18 34 3
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PubMed 21937424 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. Mutations in the TREX1 gene cause Aicardi-Goutières sy 1.91 KB 2015-11-26 28 13
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PubMed 20227423 A functional polymorphism in the disrupted-in schizophrenia 1 gene is associated with chronic fatigue syndrome. AIMS: Disrupted-in schizophrenia 1 (DISC1), identified in a pedigree with a familial psy 1.62 KB 2015-11-25 6 3
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PubMed 20086182 The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck. Caspase 8 (CASP8) is an apoptosis-related 1.65 KB 2016-01-02 6 3
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